Funded by and developed in collaboration with Chiesi GRD. This Rare Disease Day 2024 we are so pleased to be partnering with Chiesi Global Rare Diseases to showcase their global initiative, ‘It’s rare for me’, elevating the voices of the rare disease community. Their programme aims to provide insights that go beyond statistics, challenge assumptions and emphasise the value that patients bring to healthcare. Their mission is to strengthen the essential pillars of listening, inclusion and empathy

towards people with rare diseases—to give the RARE community the visibility they deserve.

In this edition we feature 10 stories from people across eight countries in Europe, covering four rare conditions: alpha-mannosidosis, beta thalassaemia, cystinosis and Leber’s hereditary optic neuropathy (LHON). Their diseases may be different but this unique group of people share similar challenges, uncertainties and emotions of their experiences, alongside a desire to feel empoweredand to not be defined by their condition. Read here: https://bit.ly/Chiesi-RDD-2024

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Funded by and developed in collaboration with Chiesi GRD. Facing childhood and adolescence with a  clinical condition that requires frequent blood transfusions and hospital checkups is a challenge not only for the young patient, but also for the family as they strive to balance the natural parental inclination of protection with a desire to encourage a life lived to the full. Chiara was born and raised in Italy where she was diagnosed with beta thalassaemia major and severe anaemia, requiring regular blood transfusions that impacted her childhood experiences. Now 24 years old, Chiara has been transfusion-dependent since she was six. Read here: https://bit.ly/RDDIssue2024-Chiara

Funded by and developed in collaboration with Chiesi GRD. Leber’s hereditary optic neuropathy (LHON) is a rare genetic mitochondrial condition that can lead to vision loss and blindness, forcing those affected to adapt and relearn everything they have come to know. Paola was diagnosed with LHON over 30 years ago, and now lives in a small town in northern Italy called Piacenza. This is her story: https://bit.ly/RDDIssue2024-Paola

Funded by and developed in collaboration with Chiesi GRD. It took 18 years for Peter to receive his diagnosis of alpha mannosidosis, an ultra-rare hereditary disease caused by a deficiency in the alpha-D-mannosidase enzyme. Peter’s mother, Maria, discusses the impact her son’s condition has on the whole family. She talks about how vital their support is in caring for Peter’s everyday needs and about her specific role as a mother to a child with additional support needs. Read here: https://bit.ly/RDDIssue2024-PeterAndMaria

Funded by and developed in collaboration with Chiesi GRD. Born and raised in Campania, near Caserta, Italy, Camillo has lived with beta thalassaemia major, the most severe form of thalassaemia, since he was a child. Now a high school student, he reflects on the impact his condition has had on his life and how he approaches it with a positive mindset. Read here: https://bit.ly/RDDIssue2024-Camillo

Funded by and developed in collaboration with Chiesi GRD. Eliane was diagnosed with Leber’s

hereditary optic neuropathy (LHON), a rare degenerative disease of the optic nerve causing  progressive vision loss, in 2014. Almost a decade on from her diagnosis, Eliane talks about her journey to acceptance, and how she has learned to take control and push the boundaries of what she once thought was impossible, and how she has realised she doesn’t always need to be the strong one. Read here: https://bit.ly/RDDIssue2024-Eliane 

Funded by and developed in collaboration with Chiesi GRD. Alpha-mannosidosis is an ultra-rare

genetic disorder connected to the deficiency of the alpha-mannosidosis enzyme and is a condition which affects many organs and systems, including the central nervous system.1 It is diagnosed inapproximately one in 500,000 babies born worldwide. Haiko is an adolescent living in Belgium who is facing his own complex path to adulthood. This is his story through the eyes of his parents, Jutta and Lauri. Read here: https://bit.ly/RDDIssue2024-Haiko

Funded by and developed in collaboration with Chiesi GRD. Without knowing it Saffron has been a pioneer and a forerunner for a complex and little-known disease called alpha-mannosidosis—a multi-systemic, ultrarare genetic condition that affects many of the body’s organs and the centralnervous system. Saffron’s story is one that future generations will look to, but above all, it is a story of how we can all learn to learn from each other, and how life-enhancing that can be for all. Read here: https://bit.ly/RDDIssue2024-Saffron

Funded by and developed in collaboration with Chiesi GRD. Diagnosed with nephropathic cystinosis at a very young age, Konstantinos has lived with the effects of this ultra-rare disease his whole life. Now a young adult, he reflects on the impact his condition had on him growing up, how he has learned from and overcome certain challenges and is now firmly looking to the future. Read here: https://bit.ly/RDDIssue2024-Konstantinos

Funded by and developed in collaboration with Chiesi GRD. A rare condition by nature of its raritybrings many unknowns. Sometimes this means individuals can unknowingly find themselves being forerunners and pioneers, tracing unexplored clinical routes and becoming the point of reference for those who will come after. This is the story of Thomas, who at a very young age received a diagnosis of alpha-mannosidosis, an ultra-rare genetic disorder affecting the central nervous system and many other organs and systems. Read here: https://bit.ly/RDDIssue2024-Thomas

Funded by and developed in collaboration with Chiesi GRD. A positive attitude and, at times, a sense of humour about one’s clinical condition, regardless of its seriousness, are helpful in navigating its many challenges. But that does not always feel easy or possible. This insight inspires the patient advocacy activity of Nicola, an Italian living in Cologne, Germany. Nicola lives with a diagnosis of beta thalassaemia, a blood disorder that can cause a long series of physiological effects. This is Nicola’s story. Read here: https://bit.ly/RDDIssue2024-Nicola